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Fig. 2 | Orphanet Journal of Rare Diseases

Fig. 2

From: Biallelic ERBB3 loss-of-function variants are associated with a novel multisystem syndrome without congenital contracture

Fig. 2

Genomic DNA sequencing of the pedigree. a Pedigree of the patient. b The data analysis algorithm used for filtering all single nucleotide variants identified using trio-based, whole exome sequencing, with the number of remaining variants after each filtering step. On filtering and prioritization, compound heterozygous variants of the ERBB3 gene were identified as the top candidate. MAF, minor allele frequency. c Sanger sequencing confirmed the compound heterozygous variants, c.1253 T > C;p.I418T and c.3182dupA;p.N1061Kfs*16, in the patient. Red arrows indicate variant bases. d Distribution of loss-of-function germline mutations in the ERBB3 protein

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